Abstract
Donnai-Barrow syndrome (DBS) is an autosomal recessive disorder characterized by typical craniofacial features, vision and hearing loss, intellectual disability, agenesis of the corpus callosum (ACC), congenital diaphragmatic hernia (CDH), and omphalocele. This condition is associated with loss-of-function mutations in the LRP2 gene. Few cases have been described in the literature. In our case, CDH and ACC were prenatally diagnosed by ultrasound, and the fetus was the product of a first-degree union. Single-nucleotide polymorphism-microarray showed large regions of homozygosity. Whole exome sequencing (WES) was performed and revealed a homozygous frameshift pathogenic variant in LRP2 (c.6978dupG). Here, we present a case of DBS, which diagnosed prenatally via WES in a fetus with CDH and ACC.
Keywords:
Donnai-Barrow syndrome; prenatal diagnosis; whole exome sequencing (WES).
© 2019 Wiley Periodicals, Inc.
MeSH terms
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Abnormalities, Multiple / diagnosis
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Abnormalities, Multiple / diagnostic imaging
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Abnormalities, Multiple / genetics*
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Abnormalities, Multiple / pathology
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Adult
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Agenesis of Corpus Callosum / diagnosis
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Agenesis of Corpus Callosum / diagnostic imaging
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Agenesis of Corpus Callosum / genetics*
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Agenesis of Corpus Callosum / pathology
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Agenesis of Corpus Callosum / therapy
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Consanguinity
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Exome Sequencing / methods
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Female
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Hearing Loss, Sensorineural / diagnosis
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Hearing Loss, Sensorineural / diagnostic imaging
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Hearing Loss, Sensorineural / genetics*
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Hearing Loss, Sensorineural / pathology
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Hernias, Diaphragmatic, Congenital / diagnosis
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Hernias, Diaphragmatic, Congenital / diagnostic imaging
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Hernias, Diaphragmatic, Congenital / genetics*
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Hernias, Diaphragmatic, Congenital / pathology
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Homozygote
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Humans
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Infant
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Infant, Newborn
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Intellectual Disability / diagnosis
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Intellectual Disability / genetics
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Intellectual Disability / pathology
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Intellectual Disability / therapy
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Loss of Function Mutation / genetics
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Low Density Lipoprotein Receptor-Related Protein-2 / genetics*
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Myopia / diagnosis
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Myopia / diagnostic imaging
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Myopia / genetics*
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Myopia / pathology
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Prenatal Diagnosis / methods
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Proteinuria / diagnosis
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Proteinuria / diagnostic imaging
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Proteinuria / genetics*
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Proteinuria / pathology
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Renal Tubular Transport, Inborn Errors / diagnosis
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Renal Tubular Transport, Inborn Errors / diagnostic imaging
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Renal Tubular Transport, Inborn Errors / genetics*
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Renal Tubular Transport, Inborn Errors / pathology
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Ultrasonography
Substances
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LRP2 protein, human
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Low Density Lipoprotein Receptor-Related Protein-2